Incidental Mutation 'R4112:Stt3b'
ID 314467
Institutional Source Beutler Lab
Gene Symbol Stt3b
Ensembl Gene ENSMUSG00000032437
Gene Name STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)
Synonyms 1300006C19Rik, Simp
MMRRC Submission 040989-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.833) question?
Stock # R4112 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 115071649-115139489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115095206 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 275 (F275Y)
Ref Sequence ENSEMBL: ENSMUSP00000035010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035010]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000035010
AA Change: F275Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035010
Gene: ENSMUSG00000032437
AA Change: F275Y

DomainStartEndE-ValueType
low complexity region 40 60 N/A INTRINSIC
Pfam:STT3 68 560 2e-151 PFAM
low complexity region 807 821 N/A INTRINSIC
Meta Mutation Damage Score 0.8275 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a catalytic subunit of a protein complex that transfers oligosaccharides onto asparagine residues. Defects in this gene are a cause of congenital disorder of glycosylation Ix (CDG1X). [provided by RefSeq, Jun 2014]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aamp A G 1: 74,320,386 (GRCm39) probably benign Het
Abcb4 A G 5: 8,986,783 (GRCm39) probably null Het
Adam6b T A 12: 113,453,256 (GRCm39) F24L possibly damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Angpt2 T A 8: 18,749,139 (GRCm39) Q326L probably damaging Het
Armc9 T A 1: 86,116,661 (GRCm39) I327N possibly damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
Ccdc162 T A 10: 41,532,324 (GRCm39) E450V possibly damaging Het
Ccdc7b G T 8: 129,811,708 (GRCm39) probably benign Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Chia1 T C 3: 106,035,844 (GRCm39) L168P probably damaging Het
Cnot1 A C 8: 96,500,246 (GRCm39) L111V probably damaging Het
Col14a1 A T 15: 55,226,955 (GRCm39) N235I unknown Het
Col2a1 A C 15: 97,881,582 (GRCm39) L787R probably benign Het
Cyp3a25 A T 5: 145,939,841 (GRCm39) D55E probably benign Het
Dennd6a A T 14: 26,349,673 (GRCm39) probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Gemin4 T A 11: 76,103,645 (GRCm39) E372V probably damaging Het
Glyr1 T C 16: 4,836,350 (GRCm39) K500E possibly damaging Het
Gm10271 A T 10: 116,803,943 (GRCm39) probably benign Het
Gm20775 A T Y: 10,641,878 (GRCm39) noncoding transcript Het
Gm5578 A G 6: 112,583,466 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,167 (GRCm39) N234S probably damaging Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Klf17 A G 4: 117,617,898 (GRCm39) V153A possibly damaging Het
L3mbtl2 T C 15: 81,566,170 (GRCm39) V331A possibly damaging Het
Med1 A T 11: 98,070,913 (GRCm39) V110E probably damaging Het
Nsmaf A C 4: 6,417,188 (GRCm39) Y535* probably null Het
Pcdh10 G A 3: 45,336,055 (GRCm39) V790M probably damaging Het
Phlpp1 A G 1: 106,292,068 (GRCm39) T976A probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprk T A 10: 28,351,284 (GRCm39) probably null Het
Rbm5 A T 9: 107,642,796 (GRCm39) D79E probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rnd3 T A 2: 51,038,242 (GRCm39) T78S possibly damaging Het
Scart2 G T 7: 139,878,281 (GRCm39) G1003* probably null Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc10a2 C T 8: 5,155,135 (GRCm39) D17N probably benign Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sptb T A 12: 76,644,553 (GRCm39) T2098S probably damaging Het
Src T A 2: 157,304,946 (GRCm39) L165H probably damaging Het
Srr G T 11: 74,803,898 (GRCm39) Q20K probably benign Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tmem80 A G 7: 140,913,692 (GRCm39) probably benign Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Ttc24 T A 3: 87,981,946 (GRCm39) D40V probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp3 T A 11: 70,662,333 (GRCm39) S97R probably benign Het
Other mutations in Stt3b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Stt3b APN 9 115,080,915 (GRCm39) missense probably benign 0.42
IGL00929:Stt3b APN 9 115,095,233 (GRCm39) missense probably damaging 1.00
IGL01333:Stt3b APN 9 115,086,612 (GRCm39) missense probably damaging 0.97
IGL01389:Stt3b APN 9 115,082,968 (GRCm39) missense probably benign
IGL01680:Stt3b APN 9 115,075,329 (GRCm39) splice site probably benign
IGL01980:Stt3b APN 9 115,105,767 (GRCm39) splice site probably null
IGL02351:Stt3b APN 9 115,079,975 (GRCm39) missense possibly damaging 0.90
IGL02358:Stt3b APN 9 115,079,975 (GRCm39) missense possibly damaging 0.90
IGL02421:Stt3b APN 9 115,080,920 (GRCm39) splice site probably benign
IGL02602:Stt3b APN 9 115,105,846 (GRCm39) missense probably damaging 1.00
IGL03231:Stt3b APN 9 115,073,062 (GRCm39) missense unknown
supersonic UTSW 9 115,083,085 (GRCm39) missense probably damaging 1.00
R0482:Stt3b UTSW 9 115,077,635 (GRCm39) missense probably benign 0.10
R1221:Stt3b UTSW 9 115,086,567 (GRCm39) missense probably benign 0.00
R1437:Stt3b UTSW 9 115,083,995 (GRCm39) missense probably damaging 1.00
R1477:Stt3b UTSW 9 115,095,260 (GRCm39) missense probably damaging 1.00
R1604:Stt3b UTSW 9 115,079,995 (GRCm39) missense probably damaging 1.00
R1796:Stt3b UTSW 9 115,077,675 (GRCm39) nonsense probably null
R4166:Stt3b UTSW 9 115,083,969 (GRCm39) missense probably damaging 1.00
R4695:Stt3b UTSW 9 115,083,862 (GRCm39) missense probably damaging 1.00
R5183:Stt3b UTSW 9 115,095,211 (GRCm39) missense probably damaging 0.99
R5317:Stt3b UTSW 9 115,081,578 (GRCm39) nonsense probably null
R5631:Stt3b UTSW 9 115,083,913 (GRCm39) missense probably benign 0.05
R5665:Stt3b UTSW 9 115,095,215 (GRCm39) missense probably damaging 1.00
R6495:Stt3b UTSW 9 115,096,388 (GRCm39) missense possibly damaging 0.46
R6517:Stt3b UTSW 9 115,096,410 (GRCm39) missense probably benign
R6525:Stt3b UTSW 9 115,087,626 (GRCm39) missense probably damaging 1.00
R6593:Stt3b UTSW 9 115,081,579 (GRCm39) missense probably damaging 0.99
R7065:Stt3b UTSW 9 115,095,224 (GRCm39) missense probably damaging 1.00
R7071:Stt3b UTSW 9 115,083,085 (GRCm39) missense probably damaging 1.00
R7297:Stt3b UTSW 9 115,106,025 (GRCm39) missense probably damaging 1.00
R7313:Stt3b UTSW 9 115,095,183 (GRCm39) missense probably damaging 0.99
R7554:Stt3b UTSW 9 115,109,477 (GRCm39) critical splice donor site probably null
R7790:Stt3b UTSW 9 115,105,887 (GRCm39) missense probably damaging 1.00
R7802:Stt3b UTSW 9 115,105,949 (GRCm39) missense probably damaging 1.00
R8305:Stt3b UTSW 9 115,083,999 (GRCm39) missense probably damaging 1.00
R8361:Stt3b UTSW 9 115,083,988 (GRCm39) missense probably damaging 1.00
R8362:Stt3b UTSW 9 115,083,988 (GRCm39) missense probably damaging 1.00
R8363:Stt3b UTSW 9 115,083,988 (GRCm39) missense probably damaging 1.00
R8371:Stt3b UTSW 9 115,095,243 (GRCm39) missense probably damaging 1.00
R8799:Stt3b UTSW 9 115,077,685 (GRCm39) missense probably damaging 1.00
R8996:Stt3b UTSW 9 115,073,065 (GRCm39) missense unknown
R9215:Stt3b UTSW 9 115,085,223 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTTGGGGCAATCTCCCTGC -3'
(R):5'- TGGGATCATCAGTAAAACAGTCC -3'

Sequencing Primer
(F):5'- GCCCCCACCCACTGTTTG -3'
(R):5'- TAGGAGCCATGAGTCTGA -3'
Posted On 2015-05-14